المؤلفون: Adam Jackson, Sheng-Jia Lin, Elizabeth A. Jones, Kate E. Chandler, David Orr, Celia Moss, Zahra Haider, Gavin Ryan, Simon Holden, Mike Harrison, Nigel Burrows, Wendy D. Jones, Mary Loveless, Cassidy Petree, Helen Stewart, Karen Low, Deirdre Donnelly, Simon Lovell, Konstantina Drosou, Gaurav K. Varshney, Siddharth Banka, J.C. Ambrose, P. Arumugam, R. Bevers, M. Bleda, F. Boardman-Pretty, C.R. Boustred, H. Brittain, M.A. Brown, M.J. Caulfield, G.C. Chan, A. Giess, J.N. Griffin, A. Hamblin, S. Henderson, T.J.P. Hubbard, R. Jackson, L.J. Jones, D. Kasperaviciute, M. Kayikci, A. Kousathanas, L. Lahnstein, A. Lakey, S.E.A. Leigh, I.U.S. Leong, F.J. Lopez, F. Maleady-Crowe, M. McEntagart, F. Minneci, J. Mitchell, L. Moutsianas, M. Mueller, N. Murugaesu, A.C. Need, P. O‘Donovan, C.A. Odhams, C. Patch, D. Perez-Gil, M.B. Pereira, J. Pullinger, T. Rahim, A. Rendon, T. Rogers, K. Savage, K. Sawant, R.H. Scott, A. Siddiq, A. Sieghart, S.C. Smith, A. Sosinsky, A. Stuckey, M. Tanguy, A.L. Taylor Tavares, E.R.A. Thomas, S.R. Thompson, A. Tucci, M.J. Welland, E. Williams, K. Witkowska, S.M. Wood, M. Zarowiecki, Olaf Riess, Tobias B. Haack, Holm Graessner, Birte Zurek, Kornelia Ellwanger, Stephan Ossowski, German Demidov, Marc Sturm, Julia M. Schulze-Hentrich, Rebecca Schüle, Christoph Kessler, Melanie Wayand, Matthis Synofzik, Carlo Wilke, Andreas Traschütz, Ludger Schöls, Holger Hengel, Peter Heutink, Han Brunner, Hans Scheffer, Nicoline Hoogerbrugge, Alexander Hoischen, Peter A.C. ’t Hoen, Lisenka E.L.M. Vissers, Christian Gilissen, Wouter Steyaert, Karolis Sablauskas, Richarda M. de Voer, Erik-Jan Kamsteeg, Bart van de Warrenburg, Nienke van Os, Iris te Paske, Erik Janssen, Elke de Boer, Marloes Steehouwer, Burcu Yaldiz, Tjitske Kleefstra, Anthony J. Brookes, Colin Veal, Spencer Gibson, Marc Wadsley, Mehdi Mehtarizadeh, Umar Riaz, Greg Warren, Farid Yavari Dizjikan, Thomas Shorter, Ana Töpf, Volker Straub, Chiara Marini Bettolo, Sabine Specht, Jill Clayton-Smith, Elizabeth Alexander, Laurence Faivre, Christel Thauvin, Antonio Vitobello, Anne-Sophie Denommé-Pichon, Yannis Duffourd, Emilie Tisserant, Ange-Line Bruel, Christine Peyron, Aurore Pélissier, Sergi Beltran, Ivo Glynne Gut, Steven Laurie, Davide Piscia, Leslie Matalonga, Anastasios Papakonstantinou, Gemma Bullich, Alberto Corvo, Carles Garcia, Marcos Fernandez-Callejo, Carles Hernández, Daniel Picó, Ida Paramonov, Hanns Lochmüller, Gulcin Gumus, Virginie Bros-Facer, Ana Rath, Marc Hanauer, Annie Olry, David Lagorce, Svitlana Havrylenko, Katia Izem, Fanny Rigour, Giovanni Stevanin, Alexandra Durr, Claire-Sophie Davoine, Léna Guillot-Noel, Anna Heinzmann, Giulia Coarelli, Gisèle Bonne, Teresinha Evangelista, Valérie Allamand, Isabelle Nelson, Rabah Ben Yaou, Corinne Metay, Bruno Eymard, Enzo Cohen, Antonio Atalaia, Tanya Stojkovic, Milan Macek, Jr., Marek Turnovec, Dana Thomasová, Radka Pourová Kremliková, Vera Franková, Markéta Havlovicová, Vlastimil Kremlik, Helen Parkinson, Thomas Keane, Dylan Spalding, Alexander Senf, Peter Robinson, Daniel Danis, Glenn Robert, Alessia Costa, Christine Patch, Mike Hanna, Henry Houlden, Mary Reilly, Jana Vandrovcova, Francesco Muntoni, Irina Zaharieva, Anna Sarkozy, Vincent Timmerman, Jonathan Baets, Liedewei Van de Vondel, Danique Beijer, Peter de Jonghe, Vincenzo Nigro, Sandro Banfi, Annalaura Torella, Francesco Musacchia, Giulio Piluso, Alessandra Ferlini, Rita Selvatici, Rachele Rossi, Marcella Neri, Stefan Aretz, Isabel Spier, Anna Katharina Sommer, Sophia Peters, Carla Oliveira, Jose Garcia Pelaez, Ana Rita Matos, Celina São José, Marta Ferreira, Irene Gullo, Susana Fernandes, Luzia Garrido, Pedro Ferreira, Fátima Carneiro, Morris A. Swertz, Lennart Johansson, Joeri K. van der Velde, Gerben van der Vries, Pieter B. Neerincx, Dieuwke Roelofs-Prins, Sebastian Köhler, Alison Metcalfe, Alain Verloes, Séverine Drunat, Caroline Rooryck, Aurelien Trimouille, Raffaele Castello, Manuela Morleo, Michele Pinelli, Alessandra Varavallo, Manuel Posada De la Paz, Eva Bermejo Sánchez, Estrella López Martín, Beatriz Martínez Delgado, F. Javier Alonso García de la Rosa, Andrea Ciolfi, Bruno Dallapiccola, Simone Pizzi, Francesca Clementina Radio, Marco Tartaglia, Alessandra Renieri, Elisa Benetti, Peter Balicza, Maria Judit Molnar, Ales Maver, Borut Peterlin, Alexander Münchau, Katja Lohmann, Rebecca Herzog, Martje Pauly, Alfons Macaya, Anna Marcé-Grau, Andres Nascimiento Osorio, Daniel Natera de Benito, Rachel Thompson, Kiran Polavarapu, David Beeson, Judith Cossins, Pedro M. Rodriguez Cruz, Peter Hackman, Mridul Johari, Marco Savarese, Bjarne Udd, Rita Horvath, Gabriel Capella, Laura Valle, Elke Holinski-Feder, Andreas Laner, Verena Steinke-Lange, Evelin Schröck, Andreas Rump

المصدر: HGG Advances, Vol 4, Iss 2, Pp 100186- (2023)

مصطلحات موضوعية: TSPEAR, Ectodermal dysplasia, Enamel knot, WNT10A, Hypodontia, Conical teeth, Genetics, QH426-470

الوصف: Summary: TSPEAR variants cause autosomal recessive ectodermal dysplasia (ARED) 14. The function of TSPEAR is unknown. The clinical features, the mutation spectrum, and the underlying mechanisms of ARED14 are poorly understood. Combining data from new and previously published individuals established that ARED14 is primarily characterized by dental anomalies such as conical tooth cusps and hypodontia, like those seen in individuals with WNT10A-related odontoonychodermal dysplasia. AlphaFold-predicted structure-based analysis showed that most of the pathogenic TSPEAR missense variants likely destabilize the β-propeller of the protein. Analysis of 100000 Genomes Project (100KGP) data revealed multiple founder TSPEAR variants across different populations. Mutational and recombination clock analyses demonstrated that non-Finnish European founder variants likely originated around the end of the last ice age, a period of major climatic transition. Analysis of gnomAD data showed that the non-Finnish European population TSPEAR gene-carrier rate is ∼1/140, making it one of the commonest AREDs. Phylogenetic and AlphaFold structural analyses showed that TSPEAR is an ortholog of drosophila Closca, an extracellular matrix-dependent signaling regulator. We, therefore, hypothesized that TSPEAR could have a role in enamel knot, a structure that coordinates patterning of developing tooth cusps. Analysis of mouse single-cell RNA sequencing (scRNA-seq) data revealed highly restricted expression of Tspear in clusters representing enamel knots. A tspeara−/−;tspearb−/− double-knockout zebrafish model recapitulated the clinical features of ARED14 and fin regeneration abnormalities of wnt10a knockout fish, thus suggesting interaction between tspear and wnt10a. In summary, we provide insights into the role of TSPEAR in ectodermal development and the evolutionary history, epidemiology, mechanisms, and consequences of its loss of function variants.

وصف الملف: electronic resource

العلاقة: http://www.sciencedirect.com/science/article/pii/S2666247723000180Test; https://doaj.org/toc/2666-2477Test

الوصول الحر: https://doaj.org/article/2978ae9e34b04565adb7415c6d46eb52Test

المؤلفون: Steve Vucic, Matthew Kiernan, Antonia Carroll, Mary Reilly, Cindy Lin, Neil Simon, Susanna Park

المصدر: BMJ Neurology Open, Vol 3, Iss Suppl 1 (2021)

مصطلحات موضوعية: Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2632-6140Test

الوصول الحر: https://doaj.org/article/436b0c0c957b4189b04a316c4e415ef3Test

المؤلفون: Hans-Joachim Anders, Brad Rovin, David Jayne, Paul Brunetta, Rosanna Coppo, Anne Davidson, Satish Kumar Devarapu, Dick de Zeeuw, Jeremy Duffield, Dirk Eulberg, Alberto Fierro, Jürgen Floege, Steffen Frese, Loïc Guillevin, Stephen Holdsworth, Jeremy Hughes, Ralph Kettritz, Malte Kluger, Christian Krebs, Larissa Lapteva, Adeera Levin, Jinhua Li, Liz Lightstone, Matthias Mack, Ladan Mansouri, Stephen McAdoo, Eoin McKinney, Ulf Panzer, Samir Parikh, Charles Pusey, Chaim Putterman, Ton Rabelink, Andreas Radbruch, Andrew Rees, Mary Reilly, Marlies Reinders, Giuseppe Remuzzi, Piero Ruggenenti, Steven Sacks, Thomas J Schall, Catherine Meyer-Schwesinger, Kumar Sharma, Yusuke Suzuki, Nicola M. Tomas, Ming-Hui Zhao

المصدر: Kidney International Reports, Vol 1, Iss 4, Pp 327-339 (2016)

مصطلحات موضوعية: autoimmunity, inflammation, lupus, rejection, stem cells, vasculitis, Diseases of the genitourinary system. Urology, RC870-923

الوصف: To date, the treatment of immune-mediated kidney diseases has only marginally benefited from highly specific biological drugs that have demonstrated remarkable effects in many other diseases. What accounts for this disparity? In April 2016, the International Society of Nephrology held a Nexus meeting on Translational Immunology in Nephrology in Berlin, Germany, to identify and discuss hurdles that block the translational flow of target identification, and preclinical and clinical target validation in the domain of immune-mediated kidney disease. A broad panel of experts including basic scientists, translational researchers, clinical trialists, pharmaceutical industry drug developers, and representatives of the American and European regulatory authorities made recommendations on how to overcome such hurdles at all levels of the translational research process. The results of these discussions are presented here, which may serve as a roadmap for how to optimize the process of developing more innovative and effective drugs for patients with immune-mediated kidney diseases.

وصف الملف: electronic resource

العلاقة: http://www.sciencedirect.com/science/article/pii/S2468024916300481Test; https://doaj.org/toc/2468-0249Test

الوصول الحر: https://doaj.org/article/31c0023f19ae480299b2c0347a697892Test

المؤلفون: Nuno Rocha, David A Bulger, Andrea Frontini, Hannah Titheradge, Sigrid Bjerge Gribsholt, Rachel Knox, Matthew Page, Julie Harris, Felicity Payne, Claire Adams, Alison Sleigh, John Crawford, Anette Prior Gjesing, Jette Bork-Jensen, Oluf Pedersen, Inês Barroso, Torben Hansen, Helen Cox, Mary Reilly, Alex Rossor, Rebecca J Brown, Simeon I Taylor, Duncan McHale, Martin Armstrong, Elif A Oral, Vladimir Saudek, Stephen O’Rahilly, Eamonn R Maher, Bjørn Richelsen, David B Savage, Robert K Semple

المصدر: eLife, Vol 6 (2017)

مصطلحات موضوعية: mitofusin, leptin, adipose tissue, obesity, mitochondria, MFN2, Medicine, Science, Biology (General), QH301-705.5

الوصف: MFN2 encodes mitofusin 2, a membrane-bound mediator of mitochondrial membrane fusion and inter-organelle communication. MFN2 mutations cause axonal neuropathy, with associated lipodystrophy only occasionally noted, however homozygosity for the p.Arg707Trp mutation was recently associated with upper body adipose overgrowth. We describe similar massive adipose overgrowth with suppressed leptin expression in four further patients with biallelic MFN2 mutations and at least one p.Arg707Trp allele. Overgrown tissue was composed of normal-sized, UCP1-negative unilocular adipocytes, with mitochondrial network fragmentation, disorganised cristae, and increased autophagosomes. There was strong transcriptional evidence of mitochondrial stress signalling, increased protein synthesis, and suppression of signatures of cell death in affected tissue, whereas mitochondrial morphology and gene expression were normal in skin fibroblasts. These findings suggest that specific MFN2 mutations cause tissue-selective mitochondrial dysfunction with increased adipocyte proliferation and survival, confirm a novel form of excess adiposity with paradoxical suppression of leptin expression, and suggest potential targeted therapies.

وصف الملف: electronic resource

العلاقة: https://elifesciences.org/articles/23813Test; https://doaj.org/toc/2050-084XTest

الوصول الحر: https://doaj.org/article/bd9713c499934b789398647d22d67ee5Test

المؤلفون: Giacomo, Chiaro, Ulrike, Thieme, Claudia, Stancanelli, Shiwen, Koay, Ekawat, Vichayanrat, Aisling, Carr, Mary, Reilly, Ashutosh, Wechalekar, Carol, Whelan

المصدر: Association of British Neurologists: Annual Meeting Abstracts 2023

الإتاحة: https://doi.org/10.1136/jnnp-2023-abn.132Test

المؤلفون: Menelaos, Pipis, Seongsik, Won, Roy, Poh, James, Polke, Mariola, Skorupinska, Julian, Blake, Alexander, Rossor, Matilde, Laura, John, Svaren, Mary, Reilly

المصدر: Association of British Neurologists: Annual Meeting Abstracts 2023

الإتاحة: https://doi.org/10.1136/jnnp-2023-abn.246Test

المؤلفون: Christopher, Record, Harri, Sivasathiaseelan, Julian, Blake, David, Gosal, Tim, Lavin, Zane, Jaunmuktane, Sebastian, Brandner, Michael, Lunn, Mary, Reilly

المصدر: Association of British Neurologists: Annual Meeting Abstracts 2023

الإتاحة: https://doi.org/10.1136/jnnp-2023-abn.275Test

المؤلفون: Saif, Haddad, Mariola, Skorupinska, Alex, Rossor, Matilde, Laura, Julian, Blake, Michael, Lunn, Mary, Reilly

المصدر: Association of British Neurologists: Annual Meeting Abstracts 2023

الإتاحة: https://doi.org/10.1136/jnnp-2023-abn.272Test

المؤلفون: Luke, O’Donnell, Jasper, Morrow, Menelaos, Pipis, John, Thornton, Stephen, Wastling, Amy, McDowell, Christopher, Record, Alexander, Rossor, Mary, Reilly

المصدر: Association of British Neurologists: Annual Meeting Abstracts 2023

الإتاحة: https://doi.org/10.1136/jnnp-2023-abn.274Test

المؤلفون: Carey Andrew Northrop, Katherine Jamieson, Parker Jones, Mary Reilly, Tyler August

المصدر: Journal of Extension. 60

مصطلحات موضوعية: Education

الوصف: Michigan State University Extension (MSUE)’s annual conference, Connecting Entrepreneurial Communities (CEC), has served as a catalyst for entrepreneurial ecosystems across Michigan since 2012. Designed by MSUE for small towns, CEC has gained national interest as evidenced by the adoption of this conference model by four other Extension services. This article outlines the unique conference design, details the partnership between Extension and host communities, and explores conference evaluation data validating the need to continue this programming. Lessons learned and successes to date are provided to ensure readers learn the value this unique conference format has in Extension entrepreneurship programming nationally.

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::a202e6f737ee6e59231b8b4a41d75d0dTest
https://doi.org/10.34068/joe.60.02.12Test